nsv469679
- Organism: Homo sapiens
- Study:nstd29 (Locke et al. 2006)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI34 (hg16)
- Variant Calls:8
- Validation:Not tested
- Clinical Assertions: No
- Region Size:178,980
- Publication(s):Locke et al. 2006
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 677 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 677 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 2 SVs from 2 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv469679 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 13,571,273 | 13,750,252 |
| nsv469679 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 13,474,590 | 13,653,569 |
| nsv469679 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000017.8 | Chr17 | 13,675,156 | 13,854,135 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1672507 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1673944 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1674381 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1675251 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1675387 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1675707 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1675835 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1676715 | copy number loss | BAC aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1672507 | Remapped | Perfect | NC_000017.11:g.(?_ 13571273)_(1375025 2_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 13,571,273 | 13,750,252 |
| nssv1673944 | Remapped | Perfect | NC_000017.11:g.(?_ 13571273)_(1375025 2_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 13,571,273 | 13,750,252 |
| nssv1674381 | Remapped | Perfect | NC_000017.11:g.(?_ 13571273)_(1375025 2_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 13,571,273 | 13,750,252 |
| nssv1675251 | Remapped | Perfect | NC_000017.11:g.(?_ 13571273)_(1375025 2_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 13,571,273 | 13,750,252 |
| nssv1675387 | Remapped | Perfect | NC_000017.11:g.(?_ 13571273)_(1375025 2_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 13,571,273 | 13,750,252 |
| nssv1675707 | Remapped | Perfect | NC_000017.11:g.(?_ 13571273)_(1375025 2_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 13,571,273 | 13,750,252 |
| nssv1675835 | Remapped | Perfect | NC_000017.11:g.(?_ 13571273)_(1375025 2_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 13,571,273 | 13,750,252 |
| nssv1676715 | Remapped | Perfect | NC_000017.11:g.(?_ 13571273)_(1375025 2_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 13,571,273 | 13,750,252 |
| nssv1672507 | Remapped | Perfect | NC_000017.10:g.(?_ 13474590)_(1365356 9_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 13,474,590 | 13,653,569 |
| nssv1673944 | Remapped | Perfect | NC_000017.10:g.(?_ 13474590)_(1365356 9_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 13,474,590 | 13,653,569 |
| nssv1674381 | Remapped | Perfect | NC_000017.10:g.(?_ 13474590)_(1365356 9_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 13,474,590 | 13,653,569 |
| nssv1675251 | Remapped | Perfect | NC_000017.10:g.(?_ 13474590)_(1365356 9_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 13,474,590 | 13,653,569 |
| nssv1675387 | Remapped | Perfect | NC_000017.10:g.(?_ 13474590)_(1365356 9_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 13,474,590 | 13,653,569 |
| nssv1675707 | Remapped | Perfect | NC_000017.10:g.(?_ 13474590)_(1365356 9_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 13,474,590 | 13,653,569 |
| nssv1675835 | Remapped | Perfect | NC_000017.10:g.(?_ 13474590)_(1365356 9_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 13,474,590 | 13,653,569 |
| nssv1676715 | Remapped | Perfect | NC_000017.10:g.(?_ 13474590)_(1365356 9_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 13,474,590 | 13,653,569 |
| nssv1672507 | Submitted genomic | NC_000017.8:g.(?_1 3675156)_(13854135 _?)del | NCBI34 (hg16) | NC_000017.8 | Chr17 | 13,675,156 | 13,854,135 | ||
| nssv1673944 | Submitted genomic | NC_000017.8:g.(?_1 3675156)_(13854135 _?)del | NCBI34 (hg16) | NC_000017.8 | Chr17 | 13,675,156 | 13,854,135 | ||
| nssv1674381 | Submitted genomic | NC_000017.8:g.(?_1 3675156)_(13854135 _?)del | NCBI34 (hg16) | NC_000017.8 | Chr17 | 13,675,156 | 13,854,135 | ||
| nssv1675251 | Submitted genomic | NC_000017.8:g.(?_1 3675156)_(13854135 _?)del | NCBI34 (hg16) | NC_000017.8 | Chr17 | 13,675,156 | 13,854,135 | ||
| nssv1675387 | Submitted genomic | NC_000017.8:g.(?_1 3675156)_(13854135 _?)del | NCBI34 (hg16) | NC_000017.8 | Chr17 | 13,675,156 | 13,854,135 | ||
| nssv1675707 | Submitted genomic | NC_000017.8:g.(?_1 3675156)_(13854135 _?)del | NCBI34 (hg16) | NC_000017.8 | Chr17 | 13,675,156 | 13,854,135 | ||
| nssv1675835 | Submitted genomic | NC_000017.8:g.(?_1 3675156)_(13854135 _?)del | NCBI34 (hg16) | NC_000017.8 | Chr17 | 13,675,156 | 13,854,135 | ||
| nssv1676715 | Submitted genomic | NC_000017.8:g.(?_1 3675156)_(13854135 _?)del | NCBI34 (hg16) | NC_000017.8 | Chr17 | 13,675,156 | 13,854,135 |